Canonical Allele Identifier: CA440268352
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929470C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008318C>G , CM000666.2:g.88008318C>G GRCh38
NC_000004.11:g.88929470C>G , CM000666.1:g.88929470C>G GRCh37
NC_000004.10:g.89148494C>G NCBI36
NG_008604.1:g.5651C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.585C>G MANE Select ENSP00000237596.2:p.Arg195=
ENST00000237596.6:c.585C>G ENSP00000237596.2:p.Arg195=
ENST00000506727.1:n.87C>G
NM_000297.3:c.585C>G NP_000288.1:p.Arg195=
XM_011532028.1:c.585C>G XP_011530330.1:p.Arg195=
XR_244632.2:n.680C>G
NR_156488.1:n.672C>G
XM_011532028.2:c.585C>G XP_011530330.1:p.Arg195=
NM_000297.4:c.585C>G MANE Select NP_000288.1:p.Arg195=
NR_156488.2:n.684C>G